Varaico: Literature-Extracted Genetic Variants

GUSB

488 papers

RefSeq Summary

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysos...

Pfam Domains

Glyco_hydro_2_Naa 38–224UCSCGlycosyl hydrolases family 2, sugar binding domain

Glyco_hydro_2aa 226–327UCSCGlycosyl hydrolases family 2

Glyco_hydro_2_Caa 329–631UCSCGlycosyl hydrolases family 2, TIM barrel domain

Gene Aliases

HGNC Name

glucuronidase beta

HGNC Previous Name

glucuronidase, beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000181.4

p.G160delFs

c.479_480delCC

Surrounding Variants

2 papers

NM_000181.4

p.G160fs

c.478_479fs

1 paper

NM_000181.4

p.L162delFs

c.484delG

1 paper

NM_000181.4

p.V159A

c.476T>C

1 paper

NM_000181.4

p.L162fs

c.484_485fs

1 paper

NM_000181.4

p.P163S

c.487C>T

1 paper

NM_000181.4

p.P163P

c.489C>A

2 papers

NM_000181.4

p.S164P

c.490T>C

2 papers

NM_000181.4

p.R167*

c.499C>T

1 paper

NM_000181.4

p.D152G

c.455A>G

1 paper

NM_000181.4

p.D152A

c.455A>C

23 papers

NM_000181.4

p.D152N

c.454G>A

1 paper

NM_000181.4

p.I170F

c.508A>T